Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.C116R

GPR143

203 papers

RefSeq Summary

This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechani...

Pfam Domains

Ocular_albaa 1–396UCSCOcular albinism type 1 protein

Gene Aliases

HGNC Name

G protein-coupled receptor 143

HGNC Previous Symbol

OA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_000273.3
p.C116R
c.346T>C
Surrounding Variants
4 papers
NM_000273.3
p.C116G
c.346T>G
9 papers
NM_000273.3
p.C116S
c.346T>A
3 papers
NM_000273.3
p.C116fs
c.346_347fs
9 papers
NM_000273.3
p.C116S
c.347G>C
3 papers
NM_000273.3
p.F115insFs
c.344dupT
3 papers
NM_000273.3
p.C116W
c.348C>G
1 paper
NM_000273.3
p.C116*
c.348C>A
1 paper
NM_000273.3
p.A114delFs
c.340delC
1 paper
NM_000273.3
p.A114fs
c.340_341fs
2 papers
NM_000273.3
p.G118R
c.352G>C
2 papers
NM_000273.3
p.G118R
c.352G>A
20 papers
NM_000273.3
p.G118E
c.353G>A
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